biochemistry

Question 1

fasting hypoglycemia
increased glycogen in liver
increased blood lactate
hepatomegaly

Answer 1

Von Gierke’s disease

Glucose 6 phosphate deficiency

Question 2

baby with cardiomegaly and systemic damange–> early death

Answer 2

Pompe’s disease

lysosomal alpha 1,4 glucosidase deficiency

Question 3

fasting hypoglycemia
increased glycogen in liver
normal blood lactate

Answer 3

Cori’s disease

debranching enzyme (alpha 1,6 glucosidase) deficiency

mild version of von gierke’s

Question 4

increased glycogen in muscle
painful muscle cramps
myoglobinuria with strenous exercise

Answer 4

Mc Ardles disease

skeletal muscle glycogen phosphorylase deficiency

Question 5

peripheral neuropathy of hands and feet
angiokeratomas
CV and renal disease

build up of ceramide trihexoside

Answer 5

Fabry’s disease

deficiency: alpha galactosidase
Xlinked recessive

Question 6

Hepatosplenomegaly
aseptic necrosis of femur
bone crises

macrophages that look like crumpled tissue paper
build up of glucocerebroside

Answer 6

Gaucher’s disease

deficiency: glucocerebrosidase
autosomal recessive

Question 7

progressive neurodegeneration
hepatosplenomegaly
cherry red spot on macula foam cells

build up of sphingomyelin

Answer 7

Niemann-Pick disease

deficiency: sphingomyelinase
autosomal recessive

Question 8

progressive neurodegeneration
developmental delay
cherry red spot on macula
lysosomes with onion skin

NO hepatosplenomegaly

buildup of GM2 ganglioside

Answer 8

Tay Sachs disease

deficiency: hexosamidase A
autosomal recessive

Question 9

peripheral neuropathy
developmental delay
optic atrophy

buildup of galactocerebroside

Answer 9

Krabbe’s disease

deficiency: beta galactoverebrosidase
autosomal recessive

Question 10

central and peripheral demyelination with ataxia and dementia

build up of cerebrosidase sulfate

Answer 10

metachromatic leukodystropy

deficiency: Arylsulfatase A
autosomal recessive

Question 11

developmental delay
gargoylism
airway obstruction
corneal clouding
hepatosplenomegaly

build up of heparan sulfate, dermatan sulfate

Answer 11

hurler’s syndrome

deficiency: alpha L iduronidase
autosomal recessive

Question 12

developmental delay
gargoylism
airway obstruction
hepatosplenomegaly
aggressive behavior

build up of heparan sulfate, dermatan sulfate

Answer 12

hunters syndrome

deficiency: iduronate sulfate
autosomal recessive

Xlinked recessive